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rs78310315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of an aromatase deficiency mutation
Make rs78310315(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position51211010
GeneCYP19A1
is asnp
is mentioned by
dbSNPrs78310315
dbSNP (classic)rs78310315
ClinGenrs78310315
ebirs78310315
HLIrs78310315
Exacrs78310315
Gnomadrs78310315
Varsomers78310315
LitVarrs78310315
Maprs78310315
PheGenIrs78310315
Biobankrs78310315
1000 genomesrs78310315
hgdprs78310315
ensemblrs78310315
geneviewrs78310315
scholarrs78310315
googlers78310315
pharmgkbrs78310315
gwascentralrs78310315
openSNPrs78310315
23andMers78310315
SNPshotrs78310315
SNPdbers78310315
MSV3drs78310315
GWAS Ctlgrs78310315
Max Magnitude3

aka c.1310G>A (p.Cys437Tyr)

FTDNA & MyHeritage name: VG15S12228

OMIM107910
Desc
Variant0002
Relatedalso
ClinVar
Risk rs78310315(T;T)
Alt rs78310315(T;T)
Reference Rs78310315(C;C)
Significance Pathogenic
Disease Aromatase deficiency
Variation info
Gene CYP19A1
CLNDBN Aromatase deficiency
Reversed 0
HGVS NC_000015.9:g.51503207C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019394.28,